Variant report

Variant	esv3352016
Chromosome Location	chr4:175304977-175322711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:175295867..175300840-chr4:175308338..175314041,5	K562	blood:
2	chr4:175321832..175326435-chr4:175326586..175330310,4	K562	blood:
3	chr4:175307657..175309242-chr4:175317117..175319681,2	K562	blood:
4	chr4:175297581..175300515-chr4:175303674..175306572,2	K562	blood:
5	chr4:175307657..175309242-chr4:175317117..175319681,2	K562	blood:

Variant related genes	Relation type
ENSG00000249875	chromatin interactions

Extended variants
information (count: 739 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:739 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555435941	chr4:175304981-175304982	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs569053532	chr4:175304982-175304983	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11732436	chr4:175304986-175304987	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs373342146	chr4:175305000-175305001	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs578128087	chr4:175305009-175305010	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540888277	chr4:175305011-175305012	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554179579	chr4:175305024-175305025	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs117482428	chr4:175305061-175305062	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542692257	chr4:175305077-175305078	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188612087	chr4:175305119-175305120	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531462090	chr4:175305120-175305121	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs193202253	chr4:175305138-175305139	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565037287	chr4:175305158-175305159	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs527502049	chr4:175305214-175305215	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373084471	chr4:175305235-175305236	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547621683	chr4:175305265-175305266	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567493852	chr4:175305266-175305267	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs377389347	chr4:175305282-175305283	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs71611782	chr4:175305292-175305293	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541189748	chr4:175305318-175305319	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75609532	chr4:175305396-175305397	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568990445	chr4:175305527-175305528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141942358	chr4:175305540-175305541	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377596120	chr4:175305548-175305549	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557847524	chr4:175305581-175305582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs13125731	chr4:175305586-175305587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs34425026	chr4:175305596-175305597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554444185	chr4:175305599-175305600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547459801	chr4:175305691-175305692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184267160	chr4:175305696-175305697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536232022	chr4:175305731-175305732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556167656	chr4:175305736-175305737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576121692	chr4:175305741-175305742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545081805	chr4:175305753-175305754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540142331	chr4:175305763-175305764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550454672	chr4:175305779-175305780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs377407168	chr4:175305784-175305785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs188681973	chr4:175305818-175305819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs181251390	chr4:175305833-175305834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541357914	chr4:175305970-175305971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201575079	chr4:175305986-175305987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529975020	chr4:175306060-175306061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549687771	chr4:175306087-175306088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs370086642	chr4:175306144-175306145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146315330	chr4:175306262-175306263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139615196	chr4:175306264-175306265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149575933	chr4:175306270-175306271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571697000	chr4:175306287-175306288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs183889554	chr4:175306300-175306301	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188180953	chr4:175306318-175306319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Cancer	20164919	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175300600-175305000	Weak transcription	A549	lung
2	chr4:175301200-175305000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:175301800-175310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:175302200-175305000	Weak transcription	Placenta	Placenta
5	chr4:175302400-175305000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr4:175302800-175305000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:175303400-175305600	Enhancers	Fetal Intestine Large	intestine
8	chr4:175303400-175308200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:175303600-175305000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:175304400-175305200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr4:175304400-175305400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:175304400-175305400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:175304400-175305400	Enhancers	Primary hematopoietic stem cells	blood
14	chr4:175304400-175305400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:175304400-175305400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:175304400-175305400	Enhancers	K562	blood
17	chr4:175304800-175305400	Enhancers	Duodenum Mucosa	Duodenum
18	chr4:175304800-175305400	Enhancers	Fetal Intestine Small	intestine
19	chr4:175305000-175305200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr4:175305000-175305200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:175305000-175305200	Enhancers	Small Intestine	intestine
22	chr4:175305000-175305400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:175305000-175305400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:175305000-175305400	Enhancers	Placenta	Placenta
25	chr4:175305000-175305400	Enhancers	A549	lung
26	chr4:175305200-175305400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:175305400-175308000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:175305400-175308200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:175305400-175308200	Weak transcription	A549	lung
30	chr4:175305400-175310400	Weak transcription	K562	blood
31	chr4:175308000-175308600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:175308200-175308400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:175308200-175308400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:175308200-175308400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:175308200-175308800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:175308200-175308800	Enhancers	A549	lung
37	chr4:175308400-175309600	Enhancers	Colon Smooth Muscle	Colon
38	chr4:175308800-175309800	Weak transcription	A549	lung
39	chr4:175308800-175310200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:175309600-175310800	Enhancers	Stomach Mucosa	stomach
41	chr4:175309800-175312800	Enhancers	A549	lung
42	chr4:175310000-175311200	Enhancers	Fetal Heart	heart
43	chr4:175310200-175310600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:175310400-175310800	Enhancers	Fetal Muscle Leg	muscle
45	chr4:175310400-175310800	Enhancers	Hela-S3	cervix
46	chr4:175310400-175310800	Enhancers	NHEK	skin
47	chr4:175310400-175311000	Enhancers	K562	blood
48	chr4:175310400-175311400	Enhancers	Primary B cells from cord blood	blood
49	chr4:175310600-175311000	Enhancers	Primary T cells from cord blood	blood
50	chr4:175310600-175311400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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